Diagnostic challenge of the newborn patients with heritable protein C deficiency.
Anticoagulants
/ therapeutic use
Blood Coagulation
Blood Coagulation Tests
Case-Control Studies
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Genetic Testing
Humans
Infant, Newborn
Japan
Logistic Models
Male
Phenotype
Predictive Value of Tests
Protein C
/ analysis
Protein C Deficiency
/ blood
Protein S
/ analysis
Risk Factors
Sensitivity and Specificity
Journal
Journal of perinatology : official journal of the California Perinatal Association
ISSN: 1476-5543
Titre abrégé: J Perinatol
Pays: United States
ID NLM: 8501884
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
22
03
2018
accepted:
17
09
2018
revised:
12
09
2018
pubmed:
26
10
2018
medline:
16
4
2020
entrez:
25
10
2018
Statut:
ppublish
Résumé
OBJECTIVE: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan. We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry. Physiological PC and PS levels increased with wide range. The PC/PS-activity ratios converged after birth. The PC/PS-activity ratios of 19 patients with biallelic mutations, but not, 9 with monoallelic mutation, were lower than those of 13 without mutation. The logistic regression analyses established a formula including two significant variables of PC activity (cut-off < 10%, odds ratio = 30.0) and PC/PS-activity ratio (cut-off < 0.35, odds ratio = 22.7), with 93% sensitivity and 44% specificity for determining patients with mutation(s). The PC/PS-activity ratio is an effective parameter for the genetic screening of neonatal-onset PC-deficiency in Japanese population.
Identifiants
pubmed: 30353081
doi: 10.1038/s41372-018-0262-0
pii: 10.1038/s41372-018-0262-0
pmc: PMC6760599
doi:
Substances chimiques
Anticoagulants
0
Protein C
0
Protein S
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
212-219Références
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